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Nzoz genomed > Genetic tests > Tests list

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Genetic testing

Neuronal ceroid lipofuscinosis

Genetic Testing Offered by NZOZ Genomed

Test DescriptionThe CodePriceTurnaround time
Neuronal ceroid lipofuscinosis

   We perform genetic testing from:
  • saliva (the Oragene kit, spitting into a tube is required for sample collection, therefore the kit is not suitable for children under the age of 5)
  • venous blood collected into a morphological tube containing EDTA
CLN-NGS 3,300.00 zł up to 14 weeks
Neuronal ceroid lipofuscinosis
CLN2 disease, classic late infantile. Identification of the most frequent p.Arg208*, c.509-1G>C (IVS5-1G>C) and other mutations in exons 5 and 6 of the TPP1 gene
   We perform genetic testing from:
  • saliva (the Oragene kit, spitting into a tube is required for sample collection, therefore the kit is not suitable for children under the age of 5)
  • venous blood collected into a morphological tube containing EDTA
CLN2-1 324.00 zł up to 3 weeks
Neuronal ceroid lipofuscinosis
CLN3 disease, classic juvenile. Identification of the most frequent CLN3 deletion
   We perform genetic testing from:
  • saliva (the Oragene kit, spitting into a tube is required for sample collection, therefore the kit is not suitable for children under the age of 5)
  • venous blood collected into a morphological tube containing EDTA
CLN3-1 480.00 zł up to 5 weeks

Gene symbols and names according to the HUGO Gene Nomenclature Committee (HGNC).
Variant nomenclature according to the Human Genome Variation Society (HGVS) v.15.11. Exons are numbered according to the HGMD reference sequence and the full human genome (hg38).
Variant interpretation according to the American College of Medical Genetics and Genomics (ACMG).
NGS pathogenic variants confirmed by Sanger.



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